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
NEMF_chr14_49777083_49857788	49806232	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0222 a0002c0003t0004g0222	1	222	0.0045	28	c.174 others(44): Show c.1745-100_1745-99insTATATATATATATATATATATATACACA	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	324	0.0031	28	c.209 others(47): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73279351	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19056.hp2 NA19074.hp1 NA19003.hp2 NA19056.hp2 NA19074.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0077 a0002c0006t0003g0079 a0002c0006t0003g0082 a0002c0006t0003g0077 a0002c0006t0003g0079 a0002c0006t0003g0082	3	324	0.0093	28	c.326 others(47): Show c.3262+1167_3262+1168insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73295125	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp2 NA19063.hp2 HG02015.hp1 HG02040.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0194 a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0194	3	324	0.0093	28	c.390 others(47): Show c.3901+1595_3901+1596insATATATATATATATATATATATATAT AT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NETO2_chr16_47072703_47148945	47115718	T T	TATATATA others(21): Show TATATATATACATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 NA19030.hp2 HG02922.hp2 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095	3	168	0.0179	28	c.655 others(45): Show c.655-6008_655-6007insGTATATATATATATATATGTATATATAT	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	6/8			chr16	TogoVar
NEUROD6_chr7_31332465_31345726	31334249	G G	GCTTTCTT others(21): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	28	c.40 others(39): Show c.4005_*4006insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	NEUROD6	ENSG00000164600.7	transcript	ENST00000297142.4	protein_coding		3215		chr7	TogoVar
NEUROD6_chr7_31332465_31345726	31334260	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	28	c.39 others(39): Show c.3994_*3995insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	NEUROD6	ENSG00000164600.7	transcript	ENST00000297142.4	protein_coding		3204		chr7	TogoVar
NEXMIF_chrX_74727856_74930452	74796126	T T	TATATATA others(21): Show TATATATAATATATATATTATATATATAC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	224	0.0045	28	c.-47 others(47): Show c.-47-50457_-47-50430dupGTATATATATAATATATATATTATAT AT	NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3			chrX	TogoVar
NEXMIF_chrX_74727856_74930452	74796134	A A	ATATATAT others(21): Show ATATATATATTATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	224	0.0045	28	c.-47 others(47): Show c.-47-50465_-47-50438dupATATATATGTATATATATAATATATA TA	NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3			chrX	TogoVar
NEXMIF_chrX_74727856_74930452	74796245	C C	CACATATA others(21): Show CACATATATATTATATATATTATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0212 a0001c0001t0025g0212	1	224	0.0045	28	c.-47 others(47): Show c.-47-50576_-47-50549dupATATATATAATATATATAATATATAT GT	NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3			chrX	TogoVar
NEXN_chr1_77883624_77948895	77887975	C C	CTTCTTCT others(21): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	268	0.0037	28	c.-83 others(37): Show c.-837_-836insTTCTTCTTCTTCTTCTTCTTCTTCTTCT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		648		chr1	TogoVar
NEXN_chr1_77883624_77948895	77887978	C C	CTTCTTCT others(21): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	268	0.0037	28	c.-83 others(37): Show c.-834_-833insTTCTTCTTCTTCTTCTTCTTCTTCTTCT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		645		chr1	TogoVar
NF1_chr17_31089977_31382675	31226318	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02647.hp2 NA19085.hp2 HG00735.hp2 HG02647.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0008t0001g0132 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0008t0001g0132	3	252	0.0119	28	c.200 others(44): Show c.2002-103_2002-76dupCACACACACACACACACACACACACACA	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	17/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31243184	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03669.hp2 NA19012.hp2 HG03579.hp1 HG03669.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0009t0001g0113 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0009t0001g0113	3	252	0.0119	28	c.397 others(47): Show c.3975-5798_3975-5771dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	29/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31243189	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0127 a0001c0001t0016g0127	1	252	0.0040	28	c.397 others(47): Show c.3975-5771_3975-5770insGTGGGTGTGTGTGTGTGTGTGTGTGT GT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	29/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFAT5_chr16_69560966_69709654	69568344	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	380	0.0026	28	c.74- others(41): Show c.74-150_74-149insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69568346	A A	ATATATGT others(21): Show ATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18995.hp1 HG02132.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0342 a0001c0001t0001g0027 a0001c0001t0001g0342	2	380	0.0053	28	c.74- others(41): Show c.74-148_74-147insATATGTGTGTGTGTGTGTGTGTGTGTGT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69568346	A A	ATATGTGT others(21): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	380	0.0026	28	c.74- others(41): Show c.74-148_74-147insATGTGTGTGTGTGTGTGTGTGTGTGTGT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69661539	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	380	0.0026	28	c.136 others(47): Show c.1369+1641_1369+1668dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69688202	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	380	0.0026	28	c.177 others(47): Show c.1775-2714_1775-2713insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79464668	G G	GTGTGTGT others(21): Show GTGTGTGTGTACGTATATATATACACACA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0004 a0001c0029t0004	a0001c0029t0004g0096 a0001c0029t0004g0098 a0001c0029t0004g0096 a0001c0029t0004g0098	2	322	0.0062	28	c.196 others(47): Show c.1960-2779_1960-2778insGTGTGTACGTATATATATACACACAT GT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79467335	G G	GCGGGGTT others(21): Show GCGGGGTTGCCGTGTGGCCGCCGTGGAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp2 HG02280.hp1 others(6): Show HG01255.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02886.hp1 HG02970.hp2 HG03098.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0008	a0001c0006 a0001c0008 a0001c0048 others(3): Show a0001c0006 a0001c0008 a0001c0048 a0005c0031 a0006c0030 a0008c0052	a0001c0006t0002 a0001c0006t0048 a0001c0008t0005 others(6): Show a0001c0006t0002 a0001c0006t0048 a0001c0008t0005 a0001c0008t0012 a0001c0008t0046 a0001c0048t0005 a0005c0031t0004 a0006c0030t0005 a0008c0052t0036	a0001c0006t0002g0307 a0001c0006t0048g0049 a0001c0008t0005g0288 others(6): Show a0001c0006t0002g0307 a0001c0006t0048g0049 a0001c0008t0005g0288 a0001c0008t0012g0009 a0001c0008t0046g0284 a0001c0048t0005g0283 a0005c0031t0004g0011 a0006c0030t0005g0117 a0008c0052t0036g0177	9	322	0.0280	28	c.196 others(44): Show c.1960-112_1960-85dupGGGTTGCCGTGTGGCCGCCGTGGAAACG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79467335	G G	GCGGGGTT others(21): Show GCGGGGTTGCTGTGTGGCCGCCGTGGAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0026 a0007c0033t0026	a0007c0033t0026g0101 a0007c0033t0026g0101	1	322	0.0031	28	c.196 others(45): Show c.1960-106_1960-105insTGTGTGGCCGCCGTGGAAACGGGGTTGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFIA_chr1_61077561_61467788	61310764	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02257.hp1 others(7): Show HG01256.hp2 HG01258.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02976.hp2 HG03225.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0012 a0001c0001t0051 others(4): Show a0001c0001t0009 a0001c0001t0012 a0001c0001t0051 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018	a0001c0001t0009g0067 a0001c0001t0012g0018 a0001c0001t0012g0043 others(7): Show a0001c0001t0009g0067 a0001c0001t0012g0018 a0001c0001t0012g0043 a0001c0001t0051g0006 a0001c0002t0001g0017 a0001c0002t0001g0064 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0004g0030 a0001c0002t0018g0112	10	156	0.0641	28	c.626 others(47): Show c.626-21742_626-21715dupTCCTTCCTTCCTTCCTTCCTTCCTTC CT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61319790	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19043.hp2 HG02145.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0032 a0001c0002t0043 a0001c0001t0032 a0001c0002t0043	a0001c0001t0032g0138 a0001c0002t0043g0106 a0001c0001t0032g0138 a0001c0002t0043g0106	2	156	0.0128	28	c.626 others(47): Show c.626-12703_626-12676dupACACACACACACACACACACACACAC AC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61466738	C C	CACACACA others(21): Show CACACACACACACATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	156	0.0064	28	c.11 others(41): Show c.11418_*11419insACACACACACACATATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3951		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466738	C C	CACACACA others(21): Show CACACACACACATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	156	0.0064	28	c.11 others(41): Show c.11418_*11419insACACACACACATATATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3951		chr1	TogoVar
NFIB_chr9_14076848_14319141	14217660	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0221 a0001c0001t0011g0221	1	304	0.0033	28	c.563 others(47): Show c.563-37881_563-37880insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIC_chr19_3361583_3474217	3368913	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0251 a0001c0001t0251	a0001c0001t0251g0210 a0001c0001t0251g0210	1	300	0.0033	28	c.30+ others(43): Show c.30+2255_30+2282dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFIC_chr19_3361583_3474217	3467758	C C	CATATATA others(21): Show CATATATACATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0219 a0001c0001t0219	a0001c0001t0219g0038 a0001c0001t0219g0038	1	300	0.0033	28	c.49 others(39): Show c.4996_*4997insCATATATATATATATATATATATATATA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	11/11	4997	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFIC_chr19_3361583_3474217	3467758	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp1 HG02273.hp1 HG02486.hp1 others(3): Show HG02165.hp1 HG02273.hp1 HG02486.hp1 HG02970.hp2 NA18954.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0020 a0001c0001t0171 a0001c0001t0245 others(2): Show a0001c0001t0020 a0001c0001t0171 a0001c0001t0245 a0001c0002t0050 a0002c0003t0077	a0001c0001t0020g0026 a0001c0001t0020g0128 a0001c0001t0171g0143 others(3): Show a0001c0001t0020g0026 a0001c0001t0020g0128 a0001c0001t0171g0143 a0001c0001t0245g0010 a0001c0002t0050g0277 a0002c0003t0077g0296	6	300	0.0200	28	c.49 others(39): Show c.4993_*5020dupTATATATATATATATATATATATATATA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	11/11	5021	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFIC_chr19_3361583_3474217	3467781	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0199 a0002c0003t0199	a0002c0003t0199g0158 a0002c0003t0199g0158	1	300	0.0033	28	c.50 others(39): Show c.5020_*5021insTATATATATATATATATATGTATATATA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	11/11	5021	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFIC_chr19_3361583_3474217	3467788	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0104 a0001c0002t0043g0104	1	300	0.0033	28	c.50 others(39): Show c.5020_*5021insTATATATATATATATATATATATATAAA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	11/11	5021	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8653038	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0063 a0001c0001t0111g0063	1	366	0.0027	28	c.-16 others(49): Show c.-164+17295_-164+17296insTTCTTTCTTTCTTTCTTTCTTTCT CTCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663726	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0102 a0002c0002t0102	a0002c0002t0102g0014 a0002c0002t0102g0014	1	366	0.0027	28	c.-16 others(49): Show c.-163-10814_-163-10813insATGTGTGTGTGTGTGTATGTGTGT GTGT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663736	G G	GCATGTGT others(21): Show GCATGTGTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0302 a0002c0002t0035g0302	1	366	0.0027	28	c.-16 others(49): Show c.-163-10815_-163-10814insCATGTGTGTGTGTGTGTATGTGTG TGTA	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5			chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663736	G G	GTATGTGT others(21): Show GTATGTGTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp2 HG03490.hp2 HG00140.hp1 HG01346.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0241 a0001c0001t0003g0269 a0001c0001t0005g0214 a0001c0001t0003g0241 a0001c0001t0003g0269 a0001c0001t0005g0214	3	366	0.0082	28	c.-16 others(49): Show c.-163-10814_-163-10813insATGTGTGTGTGTGTGTATGTGTGT GTAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKBIE_chr6_44253166_44270551	44256006	G G	GGGTTTAC others(21): Show GGGTTTACAGTATGTGAGACACCAGTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01106.hp1 others(32): Show HG00323.hp1 HG00323.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03540.hp2 HG03704.hp2 HG03927.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0011 a0001c0005t0001 a0001c0001t0001 a0001c0001t0011 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0011g0051 a0001c0005t0001g0041	35	454	0.0771	28	c.31 others(39): Show c.3185_*3212dupTGCACTGGTGTCTCACATACTGTAAACC	NFKBIE	ENSG00000146232.17	transcript	ENST00000619360.6	protein_coding		2159		chr6	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCTCCTCC others(21): Show TCTCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	366	0.0027	28	c.90- others(41): Show c.90-402_90-401insGGGAGGGAGGGAGGGAGGGAGGGAGGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NHEJ1_chr2_219064357_219165815	219147228	C C	CCAGCACT others(21): Show CCAGCACTTTGGGAGGCCAAGGCAGGCAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	350	0.0029	28	c.529 others(43): Show c.529+401_529+428dupCTGCCTGCCTTGGCCTCCCAAAGTGCTG	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	4/7			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219152789	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02074.hp2 NA18968.hp1 HG01993.hp2 HG02074.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0248 a0001c0001t0001g0260 a0001c0001t0001g0229 a0001c0001t0001g0248 a0001c0001t0001g0260	3	350	0.0086	28	c.390 others(45): Show c.390+4655_390+4682dupTAAATAAATAAATAAATAAATAAATAAA	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	3/7			chr2	TogoVar
NHERF4_chr11_119180475_119195213	119194419	C C	CAGGAGAA others(21): Show CAGGAGAATCGCTTGAACCTGGGAGGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	28	c.49 others(39): Show c.4927_*4928insAGGAGAATCGCTTGAACCTGGGAGGCAG	NHERF4	ENSG00000172367.16	transcript	ENST00000355547.10	protein_coding		4207		chr11	TogoVar
NHLH1_chr1_160362071_160377846	160376941	T T	TCTCTCAA others(21): Show TCTCTCAACAACAACAACGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0010 a0001c0001t0011g0010	1	458	0.0022	28	c.58 others(39): Show c.5808_*5809insCTCTCAACAACAACAACGGAGGAGGAGG	NHLH1	ENSG00000171786.6	transcript	ENST00000302101.6	protein_coding		4096		chr1	TogoVar
NHSL1_chr6_138417043_138504494	138437391	T T	TATATATA others(21): Show TATATATATATACACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0124 a0001c0003t0007g0239 a0001c0003t0007g0124 a0001c0003t0007g0239	2	332	0.0060	28	c.665 others(45): Show c.665-3712_665-3711insGTGTATATATATATGTGTATATATATAT	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	5/7			chr6	TogoVar
NHSL2_chrX_71905845_72158286	71994298	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0055 a0001c0001t0023g0055	1	187	0.0054	28	c.280 others(47): Show c.280+82935_280+82962dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72093713	G G	GCTTTCTT others(21): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0087 a0004c0005t0001g0087	1	187	0.0054	28	c.281 others(47): Show c.281-38363_281-38362insTCTTTCTTTCTTTCTTTCTTTCTTTC TT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72093721	G G	GCTTGCTT others(21): Show GCTTGCTTGCTTGCTTGCTTGCTTGCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0140 a0001c0003t0031g0140	1	187	0.0054	28	c.281 others(47): Show c.281-38355_281-38354insGCTTGCTTGCTTGCTTGCTTGCTTTC TT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN2_chr9_127500343_127574073	127509761	C C	CCCTTCCC others(21): Show CCCTTCCCTCTCCCCTCCTCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18942.hp2 NA18962.hp1 others(3): Show HG02109.hp2 NA18942.hp2 NA18962.hp1 NA18980.hp2 NA18984.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0136 a0001c0001t0002g0147 a0001c0001t0002g0153 others(3): Show a0001c0001t0002g0136 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0010g0108	6	332	0.0181	28	c.116 others(45): Show c.1161+357_1161+384dupAGGGAAGGAGAGGAGGGGAGAGGGAAGG	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	9/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127509793	T T	TCCCTCCT others(21): Show TCCCTCCTCTCCTTCCCTCCTTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03710.hp1 NA18942.hp2 others(10): Show HG02129.hp2 HG03710.hp1 NA18942.hp2 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA19060.hp2 NA19068.hp1 NA19077.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0002c0003t0011 others(3): Show a0001c0001t0002 a0001c0001t0003 a0002c0003t0011 a0002c0003t0017 a0003c0004t0011 a0003c0004t0016	a0001c0001t0002g0136 a0001c0001t0002g0147 a0001c0001t0002g0152 others(10): Show a0001c0001t0002g0136 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0003g0227 a0002c0003t0011g0259 a0002c0003t0011g0298 a0002c0003t0017g0015 a0002c0003t0017g0016 a0003c0004t0011g0287 a0003c0004t0016g0011	13	332	0.0392	28	c.116 others(45): Show c.1161+352_1161+353insGAGAGGGAAGGAGGGAAGGAGAGGAGGG	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	9/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127509814	T T	TCCCTCCT others(21): Show TCCCTCCTCTCCTTCCCTCCTTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03710.hp1 NA18959.hp2 others(4): Show HG02129.hp2 HG03710.hp1 NA18959.hp2 NA18966.hp1 NA18986.hp1 NA19060.hp2 NA19068.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0003 a0002c0003t0011 a0002c0003t0017 others(2): Show a0001c0001t0003 a0002c0003t0011 a0002c0003t0017 a0003c0004t0011 a0003c0004t0016	a0001c0001t0003g0227 a0002c0003t0011g0259 a0002c0003t0011g0298 others(4): Show a0001c0001t0003g0227 a0002c0003t0011g0259 a0002c0003t0011g0298 a0002c0003t0017g0015 a0002c0003t0017g0016 a0003c0004t0011g0287 a0003c0004t0016g0011	7	332	0.0211	28	c.116 others(45): Show c.1161+304_1161+331dupGAGAGGGAAGGAGGGAAGGAGAGGAGGG	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	9/13			chr9	TogoVar

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